Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Cnnm2'

171444

Institutional Source

Beutler Lab

Gene Symbol

Cnnm2

Ensembl Gene

ENSMUSG00000064105

Gene Name

cyclin M2

Synonyms

Acdp2

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46761596-46878795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46763123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 451 (T451A)

Ref Sequence

ENSEMBL: ENSMUSP00000096972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077666] [ENSMUST00000099373]

AlphaFold

Q3TWN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000077666
AA Change: T451A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076850
Gene: ENSMUSG00000064105
AA Change: T451A

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
low complexity region	194	227	N/A	INTRINSIC
Pfam:DUF21	257	431	7.8e-39	PFAM
Blast:CBS	455	505	3e-14	BLAST
Pfam:CBS	514	578	7.6e-6	PFAM
Blast:cNMP	649	805	2e-49	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000099373
AA Change: T451A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096972
Gene: ENSMUSG00000064105
AA Change: T451A

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC
low complexity region	194	227	N/A	INTRINSIC
Pfam:DUF21	257	431	2.6e-39	PFAM
Blast:CBS	455	505	3e-14	BLAST
Pfam:CBS	514	578	1.1e-5	PFAM
Blast:cNMP	649	827	1e-46	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

All alleles(90) : Gene trapped(90)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,179,144 (GRCm38)	E447G	probably benign	Het
Actn4	T	C	7: 28,898,646 (GRCm38)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,094,072 (GRCm38)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Auh	G	A	13: 52,835,496 (GRCm38)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,651,267 (GRCm38)		probably benign	Het
Bmyc	T	C	2: 25,707,334 (GRCm38)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,604,708 (GRCm38)	R782C	probably damaging	Het
Casc3	C	T	11: 98,822,818 (GRCm38)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,719,450 (GRCm38)	M336I	probably benign	Het
Eed	T	C	7: 89,980,468 (GRCm38)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,363,186 (GRCm38)	M180K	probably benign	Het
Esr1	T	C	10: 4,997,905 (GRCm38)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,628,744 (GRCm38)	I207V	possibly damaging	Het
Fam92a	T	A	4: 12,155,745 (GRCm38)		probably null	Het
Fancg	G	A	4: 43,007,039 (GRCm38)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,385,723 (GRCm38)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,955,761 (GRCm38)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,986,282 (GRCm38)	N4120Y	probably damaging	Het
Gm156	T	C	6: 129,775,833 (GRCm38)	D3G	probably benign	Het
Gm4884	C	T	7: 41,043,831 (GRCm38)	S408L	probably benign	Het
Gm9476	T	C	10: 100,306,612 (GRCm38)		noncoding transcript	Het
Gria1	T	C	11: 57,237,010 (GRCm38)		probably null	Het
H6pd	T	A	4: 149,982,514 (GRCm38)	I472F	possibly damaging	Het
Hydin	A	T	8: 110,410,460 (GRCm38)	M632L	probably benign	Het
Hyou1	C	T	9: 44,388,870 (GRCm38)	P819S	probably damaging	Het
Il6st	A	G	13: 112,481,541 (GRCm38)	E163G	probably damaging	Het
Kcnk1	T	C	8: 125,995,539 (GRCm38)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,522,913 (GRCm38)		probably null	Het
Klk1b22	A	G	7: 44,115,975 (GRCm38)	N117S	possibly damaging	Het
Lpp	C	A	16: 24,681,841 (GRCm38)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,457,017 (GRCm38)	R2951*	probably null	Het
Luzp2	T	A	7: 55,249,490 (GRCm38)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,327,893 (GRCm38)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,812,541 (GRCm38)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,823,428 (GRCm38)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,567,968 (GRCm38)	T253A	probably benign	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Olfr398	A	T	11: 73,984,521 (GRCm38)	L29H	probably damaging	Het
Padi6	T	C	4: 140,735,836 (GRCm38)	Y146C	probably damaging	Het
Pank4	C	T	4: 154,974,651 (GRCm38)	R414W	probably damaging	Het
Pclo	T	G	5: 14,521,282 (GRCm38)	I227S	probably benign	Het
Plppr4	A	G	3: 117,328,266 (GRCm38)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,448,586 (GRCm38)	R25C	probably damaging	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,471,196 (GRCm38)	T192A	probably benign	Het
Rtbdn	A	G	8: 84,955,066 (GRCm38)	E131G	probably benign	Het
Ryr2	A	G	13: 11,794,563 (GRCm38)	V792A	probably benign	Het
Sacs	G	T	14: 61,213,679 (GRCm38)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,298,099 (GRCm38)	S123G	probably benign	Het
Sept9	A	G	11: 117,290,595 (GRCm38)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 125,491,617 (GRCm38)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,146,223 (GRCm38)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,713,496 (GRCm38)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,244 (GRCm38)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,478,735 (GRCm38)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm38)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,653,140 (GRCm38)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,216,484 (GRCm38)	S191R	probably benign	Het
Ttll1	C	T	15: 83,496,277 (GRCm38)	V296M	probably damaging	Het
Upp2	A	C	2: 58,774,165 (GRCm38)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,491,219 (GRCm38)	C780R	probably damaging	Het
Wars	C	A	12: 108,875,709 (GRCm38)	E171*	probably null	Het
Zeb2	A	T	2: 44,997,000 (GRCm38)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,896,124 (GRCm38)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,812,120 (GRCm38)	L442Q	probably benign	Het

Other mutations in Cnnm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Cnnm2	APN	19	46,763,220 (GRCm38)	missense	probably damaging	1.00
IGL01971:Cnnm2	APN	19	46,871,676 (GRCm38)	missense	probably benign	0.19
IGL02003:Cnnm2	APN	19	46,868,559 (GRCm38)	missense	probably damaging	1.00
IGL02068:Cnnm2	APN	19	46,877,388 (GRCm38)	missense	possibly damaging	0.94
IGL02185:Cnnm2	APN	19	46,762,995 (GRCm38)	missense	probably benign	0.45
IGL02652:Cnnm2	APN	19	46,763,211 (GRCm38)	missense	probably damaging	1.00
IGL02682:Cnnm2	APN	19	46,762,076 (GRCm38)	missense	probably benign	0.37
IGL03009:Cnnm2	APN	19	46,877,355 (GRCm38)	missense	probably damaging	1.00
IGL03378:Cnnm2	APN	19	46,878,034 (GRCm38)	missense	possibly damaging	0.76
R3700:Cnnm2	UTSW	19	46,762,551 (GRCm38)	missense	probably damaging	1.00
R3892:Cnnm2	UTSW	19	46,761,793 (GRCm38)	nonsense	probably null
R3911:Cnnm2	UTSW	19	46,877,936 (GRCm38)	missense	probably damaging	0.96
R4508:Cnnm2	UTSW	19	46,877,270 (GRCm38)	missense	probably benign	0.01
R4678:Cnnm2	UTSW	19	46,763,246 (GRCm38)	missense	possibly damaging	0.91
R4878:Cnnm2	UTSW	19	46,859,083 (GRCm38)	missense	probably benign	0.45
R5154:Cnnm2	UTSW	19	46,763,132 (GRCm38)	missense	probably benign	0.02
R5445:Cnnm2	UTSW	19	46,877,288 (GRCm38)	missense	possibly damaging	0.66
R5771:Cnnm2	UTSW	19	46,856,995 (GRCm38)	splice site	probably null
R5914:Cnnm2	UTSW	19	46,763,177 (GRCm38)	missense	probably benign	0.07
R6263:Cnnm2	UTSW	19	46,856,905 (GRCm38)	missense	probably benign	0.30
R6715:Cnnm2	UTSW	19	46,853,973 (GRCm38)	missense	probably damaging	1.00
R6881:Cnnm2	UTSW	19	46,877,219 (GRCm38)	missense	probably damaging	1.00
R7022:Cnnm2	UTSW	19	46,858,940 (GRCm38)	splice site	probably null
R7022:Cnnm2	UTSW	19	46,762,550 (GRCm38)	missense	probably damaging	0.98
R7486:Cnnm2	UTSW	19	46,762,074 (GRCm38)	missense	possibly damaging	0.94
R7600:Cnnm2	UTSW	19	46,762,067 (GRCm38)	missense	probably benign	0.02
R7648:Cnnm2	UTSW	19	46,877,900 (GRCm38)	missense	probably damaging	0.98
R7800:Cnnm2	UTSW	19	46,877,981 (GRCm38)	missense	probably benign	0.28
R8867:Cnnm2	UTSW	19	46,762,557 (GRCm38)	missense	probably damaging	0.99
R8971:Cnnm2	UTSW	19	46,856,923 (GRCm38)	missense	probably benign	0.28
R9433:Cnnm2	UTSW	19	46,762,368 (GRCm38)	missense	probably benign	0.23
R9463:Cnnm2	UTSW	19	46,762,551 (GRCm38)	missense	probably damaging	1.00
X0017:Cnnm2	UTSW	19	46,762,463 (GRCm38)	missense	probably benign	0.05
X0018:Cnnm2	UTSW	19	46,762,773 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATCGTGCCCCAAGCCATCTG -3'
(R):5'- AGGCCAAGTCTTTGACAAAGAGCAG -3'

Sequencing Primer
(F):5'- ATGATGATGACATTCCCCGC -3'
(R):5'- CAGGTCCACGATGTTGGAAC -3'

Posted On

2014-04-13